A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425500



Internal ID204462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:79519758..79522010hg38UCSC Ensembl
chr1:79985443..79987695hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382253
hg192253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905236
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425500
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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